ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test
Short Name: ALDOA Gene GSD Type 12 NGS Test
Also known as: Aldolase A Deficiency, GSD Type XII, ALDOA-related Glycogen Storage Disease
ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the ALDOA Gene Glycogen Storage Disease Type 12 NGS Genetic Test is to identify mutations in the ALDOA gene associated with GSD type 12. This allows for early diagnosis, confirmation of clinical suspicion, carrier testing in family members, and informed genetic counseling to guide treatment and family planning decisions.
- Test Code
- 2018
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a family pedigree chart. No fasting required.
Method: Venipuncture or FTA card spot collection
Laboratory Analysis
A blood sample is drawn via venipuncture or collected via FTA card spot from a finger prick. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples at ambient room temperature if not immediately processed.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALDOA Gene Glycogen Storage Disease Type 12 NGS Genetic Test is to identify mutations in the ALDOA gene associated with GSD type 12. This allows for early diagnosis, confirmation of clinical suspicion, carrier testing in family members, and informed genetic counseling to guide treatment and family planning decisions.
How to Prepare
- Obtain informed consent and genetic counseling
- Clean the collection site with antiseptic
- Use appropriate containers: EDTA tube for blood or FTA card for spot collection
- Label samples correctly with patient details
- Transport samples at ambient temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ALDOA gene mutations in GSD type 12 is vital for accurate diagnosis, management, and genetic counseling, especially for families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples with degraded DNA
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GSD type 12 due to ALDOA gene mutation. Recommend clinical management, lifestyle modifications, and genetic counseling for family members.
Negative (no pathogenic variant)
No ALDOA gene mutations detected. Symptoms may be due to other causes; further clinical evaluation is advised.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical impact is unknown. Genetic counseling and periodic re-evaluation are recommended.
Consult a geneticist or metabolic specialist if you experience symptoms like muscle weakness, cramping, or fatigue, or if you have a family history of GSD. Also, seek advice after receiving test results for appropriate management.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Requires clinical correlation and genetic counseling for accurate interpretation
- ⚠Does not assess for other metabolic disorders or overlapping conditions
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very low risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination with foreign DNA
- ●Degraded or low-quality DNA in the sample
- ●Recent blood transfusion (if using blood samples)
Compare With Similar Tests
| Test | ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test | Other GSD Genetic Panel | Muscle Biopsy |
|---|---|---|---|
| Comparison | ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test |
Frequently Asked Questions
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